Results 81 to 90 of about 1,356 (192)

Defects of the spliceosomal gene SNRPB affect osteo‐ and chondro‐differentiation

The FEBS Journal, Volume 291, Issue 2, Page 272-291, January 2024.
A spliceosomal defect syndrome, Cerebro‐Costo‐Mandibular syndrome, is a congenital skeletal dysplasia, caused by loss‐of‐function mutations of SNRPB which encodes a spliceosomal protein SmB/B’. We found that SNRPB deficiency leads to suppressed osteodifferentiation and promoted chondrogenesis.
Chris Knill, Ellie J. Henderson, Craig Johnson, Vun Yee Wah, Kevin Cheng, Annie J. Forster, Nobue Itasaki   +6 more
wiley   +1 more source

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +1 more source

Treacher collins syndrome - Report of a classical case

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2017
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally ...
Shweta Gangotri Sumbh, Jaishree Pagare, Bharat Sumbh   +2 more
doaj   +1 more source

A CASE OF TREACHER COLLINS SYNDROME

Balkan Journal of Medical Genetics, 2013
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S., Gürkan H., Vatansever Ü., Kürkçü K., Tozkir H., Acunaş Ba.   +5 more
doaj   +1 more source

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment [PDF]

, 2017
Introduction: Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. The incidence is close to one case per 40,000 live births, without relation to gender or race.
Gualberto Guimarães, Pryscilla, Martins Roberto Formiga, Cibelle Kayenne, Pavan Viana, Fabiana, Rodrigues, Bárbara Gabriela da S, Silva, Juliane Leonardo Oliveira Silva   +4 more
core   +1 more source

Orofacial features of Treacher Collins syndrome [PDF]

, 2009
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate.
Bonan,Paulo Rogério Ferreti, de Barros,Letízia Monteiro, Della Coletta,Ricardo, Martelli Júnior,Hercílio, Miranda,Roseli Teixeira, Swerts,Mário Sérgio Oliveira   +5 more
core  

Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108634/1/bdrc21075 ...
Achilleos, Ashokan, Bassett, Boutros, Burstyn-Cohen, Cooper, Creuzet, Dixon, Douarin, Douarin, Dudas, Ezaldein, Graham, Green, Hou, Hsu, Huang, Ibrahimi, Ishii, Ito, Jabs, Jones, Kaartinen, Lalani, Loeys, Matera, Minoux, Mishina, Miura, Nagashima, Noden, Papangeli, Pelaez, Perez-Alcala, Pingault, Reardon, Rinon, Rogers, Roscioli, Sanger, Santagati, Shprintzen, Simoes-Costa, Southard-Smith, Takahashi, Theveneau, Theveneau, Trainor, Wang, Winograd, Xu, Young   +51 more
core   +1 more source

Oculo-auriculo-vertebral Spectrum (Goldenhar′s Syndrome) - A Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2005
Goldenhar′s syndrome also known as Hemifacial microsomia and Oculo auriculo vertebral dysplasia is a type of mandibulofacial dysostosis, with ocular problems, abnormal pinna, a small mandible and epibulbar dermoids.
N Mohan
doaj  

Treacher Collins Syndrome: A Case Report and Review of Literature

Journal of Pediatrics Review, 2019
Introduction: Treacher Collins Syndrome (TCS) is an inherited and rare, autosomal dominant condition of craniofacial malformation with varying degrees of penetrance and expression that has been described extensively in the scientific literature with more
Effat Khodadadi, Zahra Dehghan
doaj  

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. [PDF]

Cold Spring Harb Mol Case Stud, 2022
Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K.   +7 more
europepmc   +1 more source